Activity
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| Clefting v7.11 | PAX3 | Eleanor Williams Phenotypes for gene: PAX3 were changed from WAARDENBURG to orofacial cleft, MONDO:0000358; Waardenburg syndrome, type 1, OMIM:193500; Waardenburg syndrome type 1, MONDO:0008670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v7.10 | PAX3 |
Ida Ertmanska changed review comment from: PMID: 34918979 Liang et al., 2021 Report of a Chinese pedigree with nonsyndromic cleft lip with or without palate. PAX3 missense variant detected: c.92C>G, p.(Thr31Ser). PMID: 27081571 Yoshida et al., 2016 Report of a 10 mo Japanese boy with pigmentation abnormalities of the right iris, ocular hypertelorism (W index: 2.00), right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism. Family history of iris pigmentation abnormality and hearing loss on mother's side. Proband was het for PAX3: c.1107C>G, p.(Ser369Arg), parents not tested. Variant not in gnomAD v4.1.1. PMID: 18483623 Wu et al., 2008 - mouse model Persistent expression of Pax3 in cranial neural crest cells resulted in cleft palate, ocular defects, malformation of the sphenoid bone, and perinatal lethality in mice.; to: PMID: 34918979 Liang et al., 2021 Report of a Chinese pedigree with nonsyndromic cleft lip with or without palate. Son (proband, 11yo male) and his father affected. Both affected individuals were het for a PAX3 missense variant: c.92C>G, p.(Thr31Ser). Method: Trio WES. Variant was absent in the healthy mother, as well as 113 unrelated healthy controls. PMID: 27081571 Yoshida et al., 2016 Report of a 10 mo Japanese boy with pigmentation abnormalities of the right iris, ocular hypertelorism (W index: 2.00), right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism. Family history of iris pigmentation abnormality and hearing loss on mother's side. Proband was het for PAX3: c.1107C>G, p.(Ser369Arg), parents not tested. Variant not in gnomAD v4.1.1. PMID: 18483623 Wu et al., 2008 - mouse model Persistent expression of Pax3 in cranial neural crest cells resulted in cleft palate, ocular defects, malformation of the sphenoid bone, and perinatal lethality in mice. |
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| Clefting v7.10 | PAX3 | Ida Ertmanska reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18483623, 27081571, 34918979; Phenotypes: orofacial cleft, MONDO:0000358, Waardenburg syndrome, type 1, OMIM:193500, Waardenburg syndrome type 1, MONDO:0008670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting | PAX3 | Helen Brittain reviewed PAX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||